######################################### > protein ENSG00000087586 in complex 963 3.78e-23 10/13 #608355 PARKES WEBER SYNDROME PKWS 3.78e-23 10/13 #608354 CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION CMAVM 1.84e-09 7/13 #607785 JUVENILE MYELOMONOCYTIC LEUKEMIA JMML LEUKEMIA, JUVENILE MYELOMONOCYTIC ######################################### > protein ENSG00000087586 in complex 912 3.32e-39 22/29 #151623 LI-FRAUMENI SYNDROME 1 LFS1 SARCOMA FAMILY SYNDROME OF LI AND FRAUMENI SBLA SYNDROME 1.20e-35 19/29 #260500 PAPILLOMA OF CHOROID PLEXUS CHOROID PLEXUS PAPILLOMA 6.50e-34 19/29 #133239 ESOPHAGEAL CANCER ESOPHAGEAL SQUAMOUS CELL CARCINOMA, INCLUDED ESCC, INCLUDED 2.32e-31 21/29 #275355 SQUAMOUS CELL CARCINOMA, HEAD AND NECK HNSCC 1.66e-27 19/29 #211980 LUNG CANCER ALVEOLAR CELL CARCINOMA, INCLUDED ADENOCARCINOMA OF LUNG, INCLUDED NONSMALL CELL LUNG CANCER, INCLUDED ######################################### > protein ENSG00000087586 in complex 1169 7.49e-05 2/4 #277700 WERNER SYNDROME WRN 1.16e-03 1/4 #210900 BLOOM SYNDROME BLM BS BLS 2.03e-03 2/4 #151623 LI-FRAUMENI SYNDROME 1 LFS1 SARCOMA FAMILY SYNDROME OF LI AND FRAUMENI SBLA SYNDROME 3.61e-03 2/4 #275355 SQUAMOUS CELL CARCINOMA, HEAD AND NECK HNSCC ######################################### > protein ENSG00000183765 in complex 1385 1.14e-05 4/5 #114480 BREAST CANCER BREAST CANCER, FAMILIAL BREAST CANCER, FAMILIAL MALE, INCLUDED 1.46e-03 1/5 #609265 LI-FRAUMENI SYNDROME 2 LFS2 1.46e-03 1/5 #210600 SECKEL SYNDROME 1 SCKL1 SCKL BIRD-HEADED DWARFISM SECKEL-TYPE DWARFISM NANOCEPHALIC DWARFISM MICROCEPHALIC PRIMORDIAL DWARFISM I ######################################### > protein ENSG00000183765 in complex 44 2.96e-27 21/26 #114480 BREAST CANCER BREAST CANCER, FAMILIAL BREAST CANCER, FAMILIAL MALE, INCLUDED 1.81e-07 7/26 #151623 LI-FRAUMENI SYNDROME 1 LFS1 SARCOMA FAMILY SYNDROME OF LI AND FRAUMENI SBLA SYNDROME 3.10e-05 5/26 #608089 ENDOMETRIAL CANCER ######################################### > protein ENSG00000183765 in complex 912 3.32e-39 22/29 #151623 LI-FRAUMENI SYNDROME 1 LFS1 SARCOMA FAMILY SYNDROME OF LI AND FRAUMENI SBLA SYNDROME 1.20e-35 19/29 #260500 PAPILLOMA OF CHOROID PLEXUS CHOROID PLEXUS PAPILLOMA 6.50e-34 19/29 #133239 ESOPHAGEAL CANCER ESOPHAGEAL SQUAMOUS CELL CARCINOMA, INCLUDED ESCC, INCLUDED 2.32e-31 21/29 #275355 SQUAMOUS CELL CARCINOMA, HEAD AND NECK HNSCC 1.66e-27 19/29 #211980 LUNG CANCER ALVEOLAR CELL CARCINOMA, INCLUDED ADENOCARCINOMA OF LUNG, INCLUDED NONSMALL CELL LUNG CANCER, INCLUDED ######################################### > protein ENSG00000104687 in complex 307 2.33e-08 4/5 #266130 GLUTATHIONE SYNTHETASE DEFICIENCY 5-@OXOPROLINURIA PYROGLUTAMIC ACIDURIA 2.33e-08 4/5 #231900 GLUTATHIONE SYNTHETASE DEFICIENCY OF ERYTHROCYTES, HEMOLYTIC ANEMIA DUE TO 7.49e-05 2/5 #203500 ALKAPTONURIA AKU HOMOGENTISIC ACID OXIDASE DEFICIENCY ######################################### > protein ENSG00000146648 in complex 961 1.60e-23 18/42 #114500 COLORECTAL CANCER CRC COLON CANCER 4.51e-23 17/42 #604370 OVARIAN CANCER, EPITHELIAL EPITHELIAL OVARIAN CANCER EOC ADENOCARCINOMA, OVARIAN, INCLUDED 2.00e-17 19/42 #114480 BREAST CANCER BREAST CANCER, FAMILIAL BREAST CANCER, FAMILIAL MALE, INCLUDED ######################################### > protein ENSG00000146648 in complex 1016 1.38e-06 2/3 #158590 NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE II dHMN2 SPINAL MUSCULAR ATROPHY, DISTAL, ADULT, AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE, SPINAL 8.73e-04 1/3 #606595 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F CMT2F CHARCOT-MARIE-TOOTH DISEASE, NEURONAL, TYPE 2F CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2F 8.73e-04 1/3 #608634 NEUROPATHY, DISTAL HEREDITARY MOTOR, HSPB1 TYPE ######################################### > protein ENSG00000146648 in complex 963 3.78e-23 10/13 #608355 PARKES WEBER SYNDROME PKWS 3.78e-23 10/13 #608354 CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION CMAVM 1.84e-09 7/13 #607785 JUVENILE MYELOMONOCYTIC LEUKEMIA JMML LEUKEMIA, JUVENILE MYELOMONOCYTIC ######################################### > protein ENSG00000146648 in complex 965 3.02e-13 8/25 #101600 PFEIFFER SYNDROME ACROCEPHALOSYNDACTYLY, TYPE V ACS5 ACS V NOACK SYNDROME, INCLUDED CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, INCLUDED 3.24e-12 8/25 #123500 CROUZON SYNDROME CRANIOFACIAL DYSOSTOSIS, TYPE I CFD1 CROUZON CRANIOFACIAL DYSOSTOSIS PSEUDO-CROUZON SYNDROME, INCLUDED 1.05e-09 9/25 #211980 LUNG CANCER ALVEOLAR CELL CARCINOMA, INCLUDED ADENOCARCINOMA OF LUNG, INCLUDED NONSMALL CELL LUNG CANCER, INCLUDED 2.84e-08 9/25 #125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT NIDDM DIABETES MELLITUS, TYPE II NONINSULIN-DEPENDENT DIABETES MELLITUS MATURITY-ONSET DIABETES INSULIN RESISTANCE, SUSCEPTIBILITY TO, INCLUDED ######################################### > protein ENSG00000141736 in complex 961 1.60e-23 18/42 #114500 COLORECTAL CANCER CRC COLON CANCER 4.51e-23 17/42 #604370 OVARIAN CANCER, EPITHELIAL EPITHELIAL OVARIAN CANCER EOC ADENOCARCINOMA, OVARIAN, INCLUDED 2.00e-17 19/42 #114480 BREAST CANCER BREAST CANCER, FAMILIAL BREAST CANCER, FAMILIAL MALE, INCLUDED ######################################### > protein ENSG00000176890 in complex 1188 4.03e-10 3/3 #609560 MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM MITOCHONDRIAL DNA DEPLETION MYOPATHY MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, INCLUDED 3.75e-05 2/3 #603041 MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME MNGIE MYONEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION POLIP SYNDROME MNGIE WITHOUT LEUKOENCEPHALOPATHY, INCLUDED 3.75e-05 2/3 #266120 URIDINE 5-PRIME MONOPHOSPHATE HYDROLASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO HEMOLYTIC ANEMIA DUE TO UMPH1 DEFICIENCY PYRIMIDINE 5-PRIME NUCLEOTIDASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO HEMOLYTIC ANEMIA DUE TO P5N DEFICIENCY P5N DEFICIENCY UMPH1 DEFICIENCY ######################################### > protein ENSG00000136872 in complex 862 1.10e-08 3/3 #601382 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1 CMT4B1 CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL RECESSIVE, WITH FOCALLY FOLDED MYELIN SHEATHS, AUTOSOMAL RECESSIVE, TYPE 4B1 CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4B1 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B CMT4B 2.36e-02 1/3 #208000 ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY GACI IDIOPATHIC INFANTILE ARTERIAL CALCIFICATION IIAC ARTERIAL CALCIFICATION, IDIOPATHIC INFANTILE ARTERIOPATHY, OCCLUSIVE INFANTILE CORONARY SCLEROSIS, MEDIAL, OF INFANCY, INCLUDED 2.36e-02 1/3 #602475 OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE OPLL ######################################### > protein ENSG00000182866 in complex 1387 1.28e-12 4/4 #308240 LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 XLP1 XLP LYMPHOPROLIFERATIVE DISEASE, X-LINKED XLPD LYP DUNCAN DISEASE EPSTEIN-BARR VIRUS INFECTION, FAMILIAL FATAL EBV SUSCEPTIBILITY EBVS INFECTIOUS MONONUCLEOSIS, SUSCEPTIBILITY TO IMMUNODEFICIENCY, X-LINKED PROGRESSIVE COMBINED VARIABLE IMMUNODEFICIENCY 5 IMD5 PURTILO SYNDROME 1.57e-04 2/4 #256800 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS CIPA NEUROPATHY, CONGENITAL SENSORY, WITH ANHIDROSIS HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY IV HSAN4 HSAN IV FAMILIAL DYSAUTONOMIA, TYPE II 1.57e-04 2/4 #209880 AUTONOMIC CONTROL, CONGENITAL FAILURE OF ONDINE CURSE, CONGENITAL CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL CCHS ONDINE-HIRSCHSPRUNG DISEASE, INCLUDED OHD, INCLUDED CCHS WITH HIRSCHSPRUNG DISEASE, INCLUDED HADDAD SYNDROME, INCLUDED ######################################### > protein ENSG00000182866 in complex 564 4.50e-05 2/4 #604416 PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE PAPA SYNDROME PAPAS FAMILIAL RECURRENT ARTHRITIS FRA 7.49e-05 2/4 #607832 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3 FSGS3 GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 3 9.47e-03 1/4 #600995 NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE SRN1 NEPHROTIC SYNDROME, IDIOPATHIC NEPHROTIC SYNDROME, TYPE 2 NPHS2 ######################################### > protein ENSG00000182866 in complex 1029 4.03e-10 3/3 #608957 CD8 DEFICIENCY, FAMILIAL 9.47e-03 1/3 #308240 LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 XLP1 XLP LYMPHOPROLIFERATIVE DISEASE, X-LINKED XLPD LYP DUNCAN DISEASE EPSTEIN-BARR VIRUS INFECTION, FAMILIAL FATAL EBV SUSCEPTIBILITY EBVS INFECTIOUS MONONUCLEOSIS, SUSCEPTIBILITY TO IMMUNODEFICIENCY, X-LINKED PROGRESSIVE COMBINED VARIABLE IMMUNODEFICIENCY 5 IMD5 PURTILO SYNDROME 1.18e-02 1/3 #608971 SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE SCID, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE ######################################### > protein ENSG00000165731 in complex 1178 1.07e-04 1/1 #162300 MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB MEN2B MEN IIB NEUROMATA, MUCOSAL, WITH ENDOCRINE TUMORS MUCOSAL NEUROMA SYNDROME MULTIPLE ENDOCRINE NEOPLASIA, TYPE III, FORMERLY MEN3, FORMERLY WAGENMANN-FROBOESE SYNDROME GANGLIONEUROMATOSIS OF THE ALIMENTARY TRACT, INCLUDED 1.07e-04 1/1 #171400 MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA MEN2A PHEOCHROMOCYTOMA AND AMYLOID-PRODUCING MEDULLARY THYROID CARCINOMA PTC SYNDROME SIPPLE SYNDROME THYROID CARCINOMA, FAMILIAL MEDULLARY, INCLUDED 1.07e-04 1/1 #155240 THYROID CARCINOMA, FAMILIAL MEDULLARY MTC FMTC MTC1 2.04e-03 1/1 #209880 AUTONOMIC CONTROL, CONGENITAL FAILURE OF ONDINE CURSE, CONGENITAL CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL CCHS ONDINE-HIRSCHSPRUNG DISEASE, INCLUDED OHD, INCLUDED CCHS WITH HIRSCHSPRUNG DISEASE, INCLUDED HADDAD SYNDROME, INCLUDED 2.91e-03 1/1 #142623 HIRSCHSPRUNG DISEASE HSCR HIRSCHSPRUNG DISEASE 1 HSCR1 MEGACOLON, AGANGLIONIC MGC 5.53e-03 1/1 #188550 THYROID CARCINOMA, PAPILLARY PAPILLARY CARCINOMA OF THYROID PACT PTC TPC FAMILIAL NONMEDULLARY THYROID CANCER FNMTC NONMEDULLARY THYROID CARCINOMA NMTC ######################################### > protein ENSG00000140443 in complex 961 1.60e-23 18/42 #114500 COLORECTAL CANCER CRC COLON CANCER 4.51e-23 17/42 #604370 OVARIAN CANCER, EPITHELIAL EPITHELIAL OVARIAN CANCER EOC ADENOCARCINOMA, OVARIAN, INCLUDED 2.00e-17 19/42 #114480 BREAST CANCER BREAST CANCER, FAMILIAL BREAST CANCER, FAMILIAL MALE, INCLUDED ######################################### > protein ENSG00000140443 in complex 965 3.02e-13 8/25 #101600 PFEIFFER SYNDROME ACROCEPHALOSYNDACTYLY, TYPE V ACS5 ACS V NOACK SYNDROME, INCLUDED CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, INCLUDED 3.24e-12 8/25 #123500 CROUZON SYNDROME CRANIOFACIAL DYSOSTOSIS, TYPE I CFD1 CROUZON CRANIOFACIAL DYSOSTOSIS PSEUDO-CROUZON SYNDROME, INCLUDED 1.05e-09 9/25 #211980 LUNG CANCER ALVEOLAR CELL CARCINOMA, INCLUDED ADENOCARCINOMA OF LUNG, INCLUDED NONSMALL CELL LUNG CANCER, INCLUDED 2.84e-08 9/25 #125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT NIDDM DIABETES MELLITUS, TYPE II NONINSULIN-DEPENDENT DIABETES MELLITUS MATURITY-ONSET DIABETES INSULIN RESISTANCE, SUSCEPTIBILITY TO, INCLUDED ######################################### > protein ENSG00000140443 in complex 1223 1.06e-27 19/22 #125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT NIDDM DIABETES MELLITUS, TYPE II NONINSULIN-DEPENDENT DIABETES MELLITUS MATURITY-ONSET DIABETES INSULIN RESISTANCE, SUSCEPTIBILITY TO, INCLUDED 3.95e-06 6/22 #607785 JUVENILE MYELOMONOCYTIC LEUKEMIA JMML LEUKEMIA, JUVENILE MYELOMONOCYTIC 5.04e-04 3/22 #115150 CARDIOFACIOCUTANEOUS SYNDROME CFC SYNDROME ######################################### > protein ENSG00000101868 in complex 892 1.61e-28 14/18 #259500 OSTEOGENIC SARCOMA OSTEOSARCOMA OSRC 1.11e-25 15/18 #109800 BLADDER CANCER 1.43e-07 4/18 #609048 MELANOMA, CUTANEOUS MALIGNANT, 3 CMM3 ######################################### > protein ENSG00000101868 in complex 1217 1.12e-04 2/6 #278300 XANTHINURIA, TYPE I XANTHINE DEHYDROGENASE DEFICIENCY XDH DEFICIENCY XANTHINE OXIDASE DEFICIENCY 1.87e-04 2/6 #277700 WERNER SYNDROME WRN 1.22e-03 2/6 #216400 COCKAYNE SYNDROME, TYPE A CSA CKN1 1.75e-03 1/6 #210900 BLOOM SYNDROME BLM BS BLS 3.10e-03 2/6 #194050 WILLIAMS-BEUREN SYNDROME WBS WILLIAMS SYNDROME WMS WS HYPERCALCEMIA, INFANTILE, INCLUDED SUPRAVALVAR AORTIC STENOSIS, INCLUDED ELFIN FACIES WITH HYPERCALCEMIA 9.46e-03 1/6 #223100 LACTASE PERSISTENCE HEREDITARY PERSISTENCE OF INTESTINAL LACTASE HYPOLACTASIA, ADULT TYPE, INCLUDED DISACCHARIDE INTOLERANCE III, INCLUDED ADULT LACTASE DEFICIENCY, INCLUDED LACTOSE INTOLERANCE, INCLUDED LACTASE NONPERSISTENCE, INCLUDED LACTASE RESTRICTION, INCLUDED ######################################### > protein ENSG00000198900 in complex 912 3.32e-39 22/29 #151623 LI-FRAUMENI SYNDROME 1 LFS1 SARCOMA FAMILY SYNDROME OF LI AND FRAUMENI SBLA SYNDROME 1.20e-35 19/29 #260500 PAPILLOMA OF CHOROID PLEXUS CHOROID PLEXUS PAPILLOMA 6.50e-34 19/29 #133239 ESOPHAGEAL CANCER ESOPHAGEAL SQUAMOUS CELL CARCINOMA, INCLUDED ESCC, INCLUDED 2.32e-31 21/29 #275355 SQUAMOUS CELL CARCINOMA, HEAD AND NECK HNSCC 1.66e-27 19/29 #211980 LUNG CANCER ALVEOLAR CELL CARCINOMA, INCLUDED ADENOCARCINOMA OF LUNG, INCLUDED NONSMALL CELL LUNG CANCER, INCLUDED ######################################### > protein ENSG00000131747 in complex 892 1.61e-28 14/18 #259500 OSTEOGENIC SARCOMA OSTEOSARCOMA OSRC 1.11e-25 15/18 #109800 BLADDER CANCER 1.43e-07 4/18 #609048 MELANOMA, CUTANEOUS MALIGNANT, 3 CMM3 ######################################### > protein ENSG00000135446 in complex 44 2.96e-27 21/26 #114480 BREAST CANCER BREAST CANCER, FAMILIAL BREAST CANCER, FAMILIAL MALE, INCLUDED 1.81e-07 7/26 #151623 LI-FRAUMENI SYNDROME 1 LFS1 SARCOMA FAMILY SYNDROME OF LI AND FRAUMENI SBLA SYNDROME 3.10e-05 5/26 #608089 ENDOMETRIAL CANCER ######################################### > protein ENSG00000135446 in complex 892 1.61e-28 14/18 #259500 OSTEOGENIC SARCOMA OSTEOSARCOMA OSRC 1.11e-25 15/18 #109800 BLADDER CANCER 1.43e-07 4/18 #609048 MELANOMA, CUTANEOUS MALIGNANT, 3 CMM3 ######################################### > protein ENSG00000135446 in complex 665 8.27e-14 5/6 #609048 MELANOMA, CUTANEOUS MALIGNANT, 3 CMM3 1.91e-07 4/6 #259500 OSTEOGENIC SARCOMA OSTEOSARCOMA OSRC 1.75e-06 4/6 #109800 BLADDER CANCER ######################################### > protein ENSG00000197122 in complex 711 1.20e-16 7/11 #608203 NEUTROPHIL IMMUNODEFICIENCY SYNDROME 1.96e-06 3/11 #300558 MENTAL RETARDATION, X-LINKED 30 MRX30 MENTAL RETARDATION, X-LINKED 47 MRX47 4.88e-06 3/11 #300436 MENTAL RETARDATION, X-LINKED 46 MRX46 ######################################### > protein ENSG00000197122 in complex 1186 1.22e-10 4/7 #225060 CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME CLPED1 ZLOTOGORA-OGUR SYNDROME ECTODERMAL DYSPLASIA, MARGARITA ISLAND TYPE ECTODERMAL DYSPLASIA, TYPE 4 ED4 ECTODERMAL DYSPLASIA, CLEFT LIP AND PALATE, MENTAL RETARDATION, AND SYNDACTYLY OROFACIAL CLEFT 7, INCLUDED OFC7, INCLUDED CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 7, INCLUDED 1.65e-09 4/7 #104310 ALZHEIMER DISEASE 2 AD2 ALZHEIMER DISEASE 2, LATE-ONSET ALZHEIMER DISEASE ASSOCIATED WITH APOE4 2.27e-08 4/7 #603218 HUNTINGTON DISEASE-LIKE 1 HDL1 HUNTINGTON-LIKE NEURODEGENERATIVE DISORDER 1 HLN1 HUNTINGTON-LIKE NEURODEGENERATIVE DISORDER, AUTOSOMAL DOMINANT PRION DISEASE, EARLY-ONSET, WITH PROMINENT PSYCHIATRIC FEATURES 2.27e-08 4/7 #600072 FATAL FAMILIAL INSOMNIA FFI INSOMNIA, FATAL FAMILIAL 2.27e-08 4/7 #245300 KURU, SUSCEPTIBILITY TO 2.27e-08 4/7 #123400 CREUTZFELDT-JAKOB DISEASE CJD CREUTZFELDT-JAKOB DISEASE, FAMILIAL CREUTZFELDT-JAKOB DISEASE, SPORADIC, INCLUDED sCJD, INCLUDED CREUTZFELDT-JAKOB DISEASE, VARIANT, INCLUDED vCJD, INCLUDED 2.27e-08 4/7 #137440 GERSTMANN-STRAUSSLER DISEASE GSD ENCEPHALOPATHY, SUBACUTE SPONGIFORM, GERSTMANN-STRAUSSLER TYPE GERSTMANN-STRAUSSLER-SCHEINKER DISEASE GSSD CEREBELLAR ATAXIA, PROGRESSIVE DEMENTIA, AND AMYLOID DEPOSITS IN CNS AMYLOIDOSIS, CEREBRAL, WITH SPONGIFORM ENCEPHALOPATHY PRION DEMENTIA 2.27e-08 4/7 #606688 SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES 9.86e-07 4/7 #104300 ALZHEIMER DISEASE AD PRESENILE AND SENILE DEMENTIA ALZHEIMER DISEASE, FAMILIAL, 1, INCLUDED AD1, INCLUDED ALZHEIMER DISEASE, EARLY-ONSET, WITH CEREBRAL AMYLOID ANGIOPATHY, INCLUDED ######################################### > protein ENSG00000197122 in complex 961 1.60e-23 18/42 #114500 COLORECTAL CANCER CRC COLON CANCER 4.51e-23 17/42 #604370 OVARIAN CANCER, EPITHELIAL EPITHELIAL OVARIAN CANCER EOC ADENOCARCINOMA, OVARIAN, INCLUDED 2.00e-17 19/42 #114480 BREAST CANCER BREAST CANCER, FAMILIAL BREAST CANCER, FAMILIAL MALE, INCLUDED ######################################### > protein ENSG00000197122 in complex 963 3.78e-23 10/13 #608355 PARKES WEBER SYNDROME PKWS 3.78e-23 10/13 #608354 CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION CMAVM 1.84e-09 7/13 #607785 JUVENILE MYELOMONOCYTIC LEUKEMIA JMML LEUKEMIA, JUVENILE MYELOMONOCYTIC ######################################### > protein ENSG00000197122 in complex 965 3.02e-13 8/25 #101600 PFEIFFER SYNDROME ACROCEPHALOSYNDACTYLY, TYPE V ACS5 ACS V NOACK SYNDROME, INCLUDED CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, INCLUDED 3.24e-12 8/25 #123500 CROUZON SYNDROME CRANIOFACIAL DYSOSTOSIS, TYPE I CFD1 CROUZON CRANIOFACIAL DYSOSTOSIS PSEUDO-CROUZON SYNDROME, INCLUDED 1.05e-09 9/25 #211980 LUNG CANCER ALVEOLAR CELL CARCINOMA, INCLUDED ADENOCARCINOMA OF LUNG, INCLUDED NONSMALL CELL LUNG CANCER, INCLUDED 2.84e-08 9/25 #125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT NIDDM DIABETES MELLITUS, TYPE II NONINSULIN-DEPENDENT DIABETES MELLITUS MATURITY-ONSET DIABETES INSULIN RESISTANCE, SUSCEPTIBILITY TO, INCLUDED ######################################### > protein ENSG00000197122 in complex 1023 4.60e-16 6/7 #186100 SYNDACTYLY, TYPE III SDTY3 RING AND LITTLE FINGER SYNDACTYLY SYNDACTYLY OF FINGERS IV AND V 4.60e-16 6/7 #164200 OCULODENTODIGITAL DYSPLASIA ODDD ODD SYNDROME OCULODENTOOSSEOUS DYSPLASIA ODOD 9.68e-06 2/7 #304400 DEAFNESS, CONDUCTIVE, WITH STAPES FIXATION DEAFNESS 3, CONDUCTIVE, WITH STAPES FIXATION DFN3 PERILYMPHATIC GUSHER-DEAFNESS SYNDROME DEAFNESS, MIXED, WITH PERILYMPHATIC GUSHER NANCE DEAFNESS SENSORINEURAL DEAFNESS, PROFOUND, WITH OR WITHOUT A CONDUCTIVE COMPONENT, ASSOCIATED WITH A UNIQUE DEVELOPMENTAL ABNORMALITY OF THE EAR PERILYMPHATIC GUSHER DURING STAPES SURGERY, INCLUDED ######################################### > protein ENSG00000197122 in complex 1155 1.65e-22 9/10 #166200 OSTEOGENESIS IMPERFECTA, TYPE I OI, TYPE I OSTEOGENESIS IMPERFECTA TARDA OSTEOGENESIS IMPERFECTA WITH BLUE SCLERAE 1.65e-22 9/10 #166210 OSTEOGENESIS IMPERFECTA CONGENITA OIC OSTEOGENESIS IMPERFECTA CONGENITA, NEONATAL LETHAL FORM OSTEOGENESIS IMPERFECTA, TYPE II OI, TYPE II VROLIK TYPE OF OSTEOGENESIS IMPERFECTA 1.65e-22 9/10 #166220 OSTEOGENESIS IMPERFECTA, TYPE IV OI, TYPE IV OSTEOGENESIS IMPERFECTA WITH NORMAL SCLERAE 1.65e-22 9/10 #259420 OSTEOGENESIS IMPERFECTA, PROGRESSIVELY DEFORMING, WITH NORMAL SCLERAE OSTEOGENESIS IMPERFECTA, TYPE III OI, TYPE III 1.65e-22 9/10 #130060 EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL DOMINANT EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE EDS VIIA ARTHROCHALASIS MULTIPLEX CONGENITA EDS VII, MUTANT PROCOLLAGEN TYPE EDS VIIA1, INCLUDED EDS VIIA2, INCLUDED EDS VIIB, INCLUDED ######################################### > protein ENSG00000197122 in complex 775 1.13e-05 2/3 #304110 CRANIOFRONTONASAL SYNDROME CFNS CRANIOFRONTONASAL DYSPLASIA CFND CRANIOFRONTONASAL DYSOSTOSIS 2.12e-02 1/3 #166220 OSTEOGENESIS IMPERFECTA, TYPE IV OI, TYPE IV OSTEOGENESIS IMPERFECTA WITH NORMAL SCLERAE 2.12e-02 1/3 #166200 OSTEOGENESIS IMPERFECTA, TYPE I OI, TYPE I OSTEOGENESIS IMPERFECTA TARDA OSTEOGENESIS IMPERFECTA WITH BLUE SCLERAE ######################################### > protein ENSG00000157764 in complex 780 7.66e-12 6/10 #115150 CARDIOFACIOCUTANEOUS SYNDROME CFC SYNDROME 6.26e-09 6/10 #109800 BLADDER CANCER 9.79e-09 4/10 #609942 NOONAN SYNDROME 3 NS3 1.32e-08 6/10 #607785 JUVENILE MYELOMONOCYTIC LEUKEMIA JMML LEUKEMIA, JUVENILE MYELOMONOCYTIC 2.93e-08 4/10 #218040 COSTELLO SYNDROME FACIOCUTANEOSKELETAL SYNDROME FCS SYNDROME ######################################### > protein ENSG00000102755 in complex 961 1.60e-23 18/42 #114500 COLORECTAL CANCER CRC COLON CANCER 4.51e-23 17/42 #604370 OVARIAN CANCER, EPITHELIAL EPITHELIAL OVARIAN CANCER EOC ADENOCARCINOMA, OVARIAN, INCLUDED 2.00e-17 19/42 #114480 BREAST CANCER BREAST CANCER, FAMILIAL BREAST CANCER, FAMILIAL MALE, INCLUDED ######################################### > protein ENSG00000159131 in complex 568 6.08e-24 9/9 #250940 METHYLCOBALAMIN DEFICIENCY, cblG TYPE HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblG COMPLEMENTATION TYPE 1.23e-12 6/9 #605899 GLYCINE ENCEPHALOPATHY GCE HYPERGLYCINEMIA, NONKETOTIC NKH HYPERGLYCINEMIA, TRANSIENT NEONATAL, INCLUDED TNH, INCLUDED 1.72e-12 5/9 #229100 FORMIMINOTRANSFERASE DEFICIENCY GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY FORMIMINOGLUTAMIC ACIDURIA FIGLU-URIA ######################################### > protein ENSG00000100030 in complex 1272 1.64e-05 2/9 #228600 FIBROMATOSIS, JUVENILE HYALINE JHF PURETIC SYNDROME HYALINOSIS, SYSTEMIC JUVENILE 1.64e-05 2/9 #236490 HYALINOSIS, INFANTILE SYSTEMIC ISH INFANTILE SYSTEMIC HYALINOSIS 2.66e-04 2/9 #101900 ACROKERATOSIS VERRUCIFORMIS AKV HOPF DISEASE 2.66e-04 2/9 #124200 DARIER-WHITE DISEASE DAR KERATOSIS FOLLICULARIS DARIER DISEASE DD DARIER DISEASE, ACRAL HEMORRHAGIC TYPE, INCLUDED DARIER DISEASE, SEGMENTAL, INCLUDED 9.21e-04 2/9 #300584 IMMUNODEFICIENCY WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA IMMUNODEFICIENCY, ISOLATED IMMUNODEFICIENCY, PURE 9.21e-04 2/9 #300301 ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNODEFICIENCY, OSTEOPETROSIS, AND LYMPHEDEMA OLEDAID 9.21e-04 2/9 #308300 INCONTINENTIA PIGMENTI IP INCONTINENTIA PIGMENTI, FAMILIAL MALE-LETHAL TYPE BLOCH-SULZBERGER SYNDROME INCONTINENTIA PIGMENTI, TYPE II, FORMERLY IP2, FORMERLY 9.21e-04 2/9 #300291 ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY HED-ID ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNE DEFICIENCY, INCLUDED EDA-ID, INCLUDED HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH ECTODERMAL DYSPLASIA, HYPOHIDROTIC, INCLUDED XHM-ED, INCLUDED 1.21e-03 2/9 #603218 HUNTINGTON DISEASE-LIKE 1 HDL1 HUNTINGTON-LIKE NEURODEGENERATIVE DISORDER 1 HLN1 HUNTINGTON-LIKE NEURODEGENERATIVE DISORDER, AUTOSOMAL DOMINANT PRION DISEASE, EARLY-ONSET, WITH PROMINENT PSYCHIATRIC FEATURES 1.21e-03 2/9 #600072 FATAL FAMILIAL INSOMNIA FFI INSOMNIA, FATAL FAMILIAL ######################################### > protein ENSG00000100030 in complex 965 3.02e-13 8/25 #101600 PFEIFFER SYNDROME ACROCEPHALOSYNDACTYLY, TYPE V ACS5 ACS V NOACK SYNDROME, INCLUDED CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, INCLUDED 3.24e-12 8/25 #123500 CROUZON SYNDROME CRANIOFACIAL DYSOSTOSIS, TYPE I CFD1 CROUZON CRANIOFACIAL DYSOSTOSIS PSEUDO-CROUZON SYNDROME, INCLUDED 1.05e-09 9/25 #211980 LUNG CANCER ALVEOLAR CELL CARCINOMA, INCLUDED ADENOCARCINOMA OF LUNG, INCLUDED NONSMALL CELL LUNG CANCER, INCLUDED 2.84e-08 9/25 #125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT NIDDM DIABETES MELLITUS, TYPE II NONINSULIN-DEPENDENT DIABETES MELLITUS MATURITY-ONSET DIABETES INSULIN RESISTANCE, SUSCEPTIBILITY TO, INCLUDED ######################################### > protein ENSG00000035928 in complex 44 2.96e-27 21/26 #114480 BREAST CANCER BREAST CANCER, FAMILIAL BREAST CANCER, FAMILIAL MALE, INCLUDED 1.81e-07 7/26 #151623 LI-FRAUMENI SYNDROME 1 LFS1 SARCOMA FAMILY SYNDROME OF LI AND FRAUMENI SBLA SYNDROME 3.10e-05 5/26 #608089 ENDOMETRIAL CANCER ######################################### > protein ENSG00000035928 in complex 1127 4.87e-38 17/18 #601675 TRICHOTHIODYSTROPHY, PHOTOSENSITIVE TTDP ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH RETARDATION, INCLUDED TAY SYNDROME, INCLUDED TRICHOTHIODYSTROPHY WITH CONGENITAL ICHTHYOSIS, INCLUDED ICHTHYOSIS, CONGENITAL, WITH TRICHOTHIODYSTROPHY, INCLUDED IBIDS SYNDROME, INCLUDED 1.17e-14 7/18 #214150 CEREBROOCULOFACIOSKELETAL SYNDROME 1 COFS1 COFS SYNDROME PENA-SHOKEIR SYNDROME, TYPE II 2.40e-11 7/18 #216400 COCKAYNE SYNDROME, TYPE A CSA CKN1 ######################################### > protein ENSG00000128052 in complex 961 1.60e-23 18/42 #114500 COLORECTAL CANCER CRC COLON CANCER 4.51e-23 17/42 #604370 OVARIAN CANCER, EPITHELIAL EPITHELIAL OVARIAN CANCER EOC ADENOCARCINOMA, OVARIAN, INCLUDED 2.00e-17 19/42 #114480 BREAST CANCER BREAST CANCER, FAMILIAL BREAST CANCER, FAMILIAL MALE, INCLUDED ######################################### > protein ENSG00000082701 in complex 1208 3.33e-26 16/27 #155255 MEDULLOBLASTOMA MDB MEDULLOBLASTOMA, DESMOPLASTIC, INCLUDED 1.12e-18 10/27 #132600 PILOMATRIXOMA PILOMATRICOMA PTR EPITHELIOMA CALCIFICANS OF MALHERBE 1.46e-05 7/27 #125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT NIDDM DIABETES MELLITUS, TYPE II NONINSULIN-DEPENDENT DIABETES MELLITUS MATURITY-ONSET DIABETES INSULIN RESISTANCE, SUSCEPTIBILITY TO, INCLUDED ######################################### > protein ENSG00000082701 in complex 912 3.32e-39 22/29 #151623 LI-FRAUMENI SYNDROME 1 LFS1 SARCOMA FAMILY SYNDROME OF LI AND FRAUMENI SBLA SYNDROME 1.20e-35 19/29 #260500 PAPILLOMA OF CHOROID PLEXUS CHOROID PLEXUS PAPILLOMA 6.50e-34 19/29 #133239 ESOPHAGEAL CANCER ESOPHAGEAL SQUAMOUS CELL CARCINOMA, INCLUDED ESCC, INCLUDED 2.32e-31 21/29 #275355 SQUAMOUS CELL CARCINOMA, HEAD AND NECK HNSCC 1.66e-27 19/29 #211980 LUNG CANCER ALVEOLAR CELL CARCINOMA, INCLUDED ADENOCARCINOMA OF LUNG, INCLUDED NONSMALL CELL LUNG CANCER, INCLUDED ######################################### > protein ENSG00000082701 in complex 1219 4.61e-06 2/5 #608615 OLIGODONTIA-COLORECTAL CANCER SYNDROME TOOTH AGENESIS-COLORECTAL CANCER SYNDROME 3.33e-05 3/5 #155255 MEDULLOBLASTOMA MDB MEDULLOBLASTOMA, DESMOPLASTIC, INCLUDED 3.75e-05 2/5 #114550 HEPATOCELLULAR CARCINOMA HCC CANCER, HEPATOCELLULAR LIVER CANCER LIVER CELL CARCINOMA LCC HEPATOMA 6.67e-05 3/5 #114500 COLORECTAL CANCER CRC COLON CANCER 1.46e-03 1/5 #604326 SPINOCEREBELLAR ATAXIA 12 SCA12 ######################################### > protein ENSG00000082701 in complex 924 2.66e-05 3/15 #191100 TUBEROUS SCLEROSIS TS TUBEROSE SCLEROSIS TUBEROUS SCLEROSIS COMPLEX TSC EPILOIA TUBEROUS SCLEROSIS 1, INCLUDED TUBEROUS SCLEROSIS 2, INCLUDED ADENOMA SEBACEUM, INCLUDED 4.62e-05 3/15 #308300 INCONTINENTIA PIGMENTI IP INCONTINENTIA PIGMENTI, FAMILIAL MALE-LETHAL TYPE BLOCH-SULZBERGER SYNDROME INCONTINENTIA PIGMENTI, TYPE II, FORMERLY IP2, FORMERLY 4.62e-05 3/15 #300291 ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY HED-ID ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNE DEFICIENCY, INCLUDED EDA-ID, INCLUDED HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH ECTODERMAL DYSPLASIA, HYPOHIDROTIC, INCLUDED XHM-ED, INCLUDED 4.62e-05 3/15 #300584 IMMUNODEFICIENCY WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA IMMUNODEFICIENCY, ISOLATED IMMUNODEFICIENCY, PURE 4.62e-05 3/15 #300301 ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNODEFICIENCY, OSTEOPETROSIS, AND LYMPHEDEMA OLEDAID 7.50e-05 5/15 #125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT NIDDM DIABETES MELLITUS, TYPE II NONINSULIN-DEPENDENT DIABETES MELLITUS MATURITY-ONSET DIABETES INSULIN RESISTANCE, SUSCEPTIBILITY TO, INCLUDED ######################################### > protein ENSG00000166851 in complex 808 1.70e-07 2/2 #181450 ULNAR-MAMMARY SYNDROME UMS SCHINZEL SYNDROME ULNAR-MAMMARY SYNDROME OF PALLISTER, INCLUDED 4.74e-03 1/2 #148820 WAARDENBURG SYNDROME, TYPE III WS3 KLEIN-WAARDENBURG SYNDROME WAARDENBURG SYNDROME WITH UPPER LIMB ANOMALIES WHITE FORELOCK WITH MALFORMATIONS 4.74e-03 1/2 #193500 WAARDENBURG SYNDROME, TYPE I WS1 ######################################### > protein ENSG00000184588 in complex 765 4.38e-09 3/4 #601777 CONE-ROD DYSTROPHY 6 CORD6 4.38e-09 3/4 #602875 ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE AMDM ST. HELENA DYSPLASIA, INCLUDED 4.16e-07 3/4 #204000 LEBER CONGENITAL AMAUROSIS, TYPE I LCA1 AMAUROSIS CONGENITA OF LEBER I LCA RETINAL BLINDNESS, CONGENITAL CRB 8.03e-06 3/4 #268000 RETINITIS PIGMENTOSA RP ######################################### > protein ENSG00000156113 in complex 617 1.22e-10 4/7 #601859 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME ALPS CANALE-SMITH SYNDROME AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, INCLUDED ALPS1A, INCLUDED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, INCLUDED ALPS1B, INCLUDED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL RECESSIVE, INCLUDED 4.16e-07 3/7 #609446 GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA GEPD EPILEPSY, GENERALIZED, WITH PAROXYSMAL DYSKINESIA 1.13e-05 4/7 #275355 SQUAMOUS CELL CARCINOMA, HEAD AND NECK HNSCC ######################################### > protein ENSG00000168067 in complex 1168 5.71e-13 6/7 #227650 FANCONI ANEMIA FA FANCONI ANEMIA, ESTREN-DAMESHEK VARIANT, INCLUDED ESTREN-DAMESHEK VARIANT OF FANCONI ANEMIA, INCLUDED ESTREN-DAMESHEK VARIANT OF FANCONI PANCYTOPENIA, INCLUDED 2.51e-01 1/7 #114480 BREAST CANCER BREAST CANCER, FAMILIAL BREAST CANCER, FAMILIAL MALE, INCLUDED ######################################### > protein ENSG00000112062 in complex 1272 1.64e-05 2/9 #228600 FIBROMATOSIS, JUVENILE HYALINE JHF PURETIC SYNDROME HYALINOSIS, SYSTEMIC JUVENILE 1.64e-05 2/9 #236490 HYALINOSIS, INFANTILE SYSTEMIC ISH INFANTILE SYSTEMIC HYALINOSIS 2.66e-04 2/9 #101900 ACROKERATOSIS VERRUCIFORMIS AKV HOPF DISEASE 2.66e-04 2/9 #124200 DARIER-WHITE DISEASE DAR KERATOSIS FOLLICULARIS DARIER DISEASE DD DARIER DISEASE, ACRAL HEMORRHAGIC TYPE, INCLUDED DARIER DISEASE, SEGMENTAL, INCLUDED 9.21e-04 2/9 #300584 IMMUNODEFICIENCY WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA IMMUNODEFICIENCY, ISOLATED IMMUNODEFICIENCY, PURE 9.21e-04 2/9 #300301 ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNODEFICIENCY, OSTEOPETROSIS, AND LYMPHEDEMA OLEDAID 9.21e-04 2/9 #308300 INCONTINENTIA PIGMENTI IP INCONTINENTIA PIGMENTI, FAMILIAL MALE-LETHAL TYPE BLOCH-SULZBERGER SYNDROME INCONTINENTIA PIGMENTI, TYPE II, FORMERLY IP2, FORMERLY 9.21e-04 2/9 #300291 ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY HED-ID ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNE DEFICIENCY, INCLUDED EDA-ID, INCLUDED HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH ECTODERMAL DYSPLASIA, HYPOHIDROTIC, INCLUDED XHM-ED, INCLUDED 1.21e-03 2/9 #603218 HUNTINGTON DISEASE-LIKE 1 HDL1 HUNTINGTON-LIKE NEURODEGENERATIVE DISORDER 1 HLN1 HUNTINGTON-LIKE NEURODEGENERATIVE DISORDER, AUTOSOMAL DOMINANT PRION DISEASE, EARLY-ONSET, WITH PROMINENT PSYCHIATRIC FEATURES 1.21e-03 2/9 #600072 FATAL FAMILIAL INSOMNIA FFI INSOMNIA, FATAL FAMILIAL ######################################### > protein ENSG00000112062 in complex 912 3.32e-39 22/29 #151623 LI-FRAUMENI SYNDROME 1 LFS1 SARCOMA FAMILY SYNDROME OF LI AND FRAUMENI SBLA SYNDROME 1.20e-35 19/29 #260500 PAPILLOMA OF CHOROID PLEXUS CHOROID PLEXUS PAPILLOMA 6.50e-34 19/29 #133239 ESOPHAGEAL CANCER ESOPHAGEAL SQUAMOUS CELL CARCINOMA, INCLUDED ESCC, INCLUDED 2.32e-31 21/29 #275355 SQUAMOUS CELL CARCINOMA, HEAD AND NECK HNSCC 1.66e-27 19/29 #211980 LUNG CANCER ALVEOLAR CELL CARCINOMA, INCLUDED ADENOCARCINOMA OF LUNG, INCLUDED NONSMALL CELL LUNG CANCER, INCLUDED ######################################### > protein ENSG00000114166 in complex 892 1.61e-28 14/18 #259500 OSTEOGENIC SARCOMA OSTEOSARCOMA OSRC 1.11e-25 15/18 #109800 BLADDER CANCER 1.43e-07 4/18 #609048 MELANOMA, CUTANEOUS MALIGNANT, 3 CMM3 ######################################### > protein ENSG00000182240 in complex 923 1.28e-27 14/16 #104300 ALZHEIMER DISEASE AD PRESENILE AND SENILE DEMENTIA ALZHEIMER DISEASE, FAMILIAL, 1, INCLUDED AD1, INCLUDED ALZHEIMER DISEASE, EARLY-ONSET, WITH CEREBRAL AMYLOID ANGIOPATHY, INCLUDED 5.07e-24 11/16 #609065 CEREBRAL HEMORRHAGE WITH AMYLOIDOSIS, HEREDITARY, DUTCH TYPE HCHWAD AMYLOIDOSIS, CEREBROARTERIAL, HEREDITARY, ITALIAN TYPE, INCLUDED 5.53e-05 2/16 #603813 HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE ARH HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE, 1, FORMERLY ARH1, FORMERLY FHCB1, FORMERLY HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE, 2, FORMERLY ARH2, FORMERLY FHCB2, FORMERLY ######################################### > protein ENSG00000001626 in complex 447 4.61e-06 2/5 #219700 CYSTIC FIBROSIS CF MUCOVISCIDOSIS 4.61e-06 2/5 #277180 VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF CBAVD CAVD 4.61e-06 2/5 #241200 BARTTER SYNDROME, ANTENATAL, TYPE 2 HYPOKALEMIC ALKALOSIS WITH HYPERCALCIURIA, ANTENATAL, 2 HYPERPROSTAGLANDIN E SYNDROME 2 3.75e-05 2/5 #101000 NEUROFIBROMATOSIS, TYPE II NF2 NEUROFIBROMATOSIS, CENTRAL TYPE ACOUSTIC SCHWANNOMAS, BILATERAL BILATERAL ACOUSTIC NEUROFIBROMATOSIS BANF ACOUSTIC NEURINOMA, BILATERAL ACN 3.75e-05 2/5 #162091 SCHWANNOMATOSIS NEURILEMMOMATOSIS, CONGENITAL CUTANEOUS ######################################### > protein ENSG00000001626 in complex 3 1.38e-06 2/3 #277180 VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF CBAVD CAVD 1.38e-06 2/3 #219700 CYSTIC FIBROSIS CF MUCOVISCIDOSIS 4.74e-03 1/3 #241200 BARTTER SYNDROME, ANTENATAL, TYPE 2 HYPOKALEMIC ALKALOSIS WITH HYPERCALCIURIA, ANTENATAL, 2 HYPERPROSTAGLANDIN E SYNDROME 2