TaoMedAI/RareMedData huggingface dataset:
Gene: COG4
Disease: COG4-CDG; CDG syndrome type IIj; CDG-IIj; CDG2J; Carbohydrate deficient glycoprotein syndrome type IIj; Congenital disorder of glycosylation type 2j; Congenital disorder of glycosylation type IIj (ORPHA:263501)
Association type: UNKNOWN
Gene: COG4
Disease: Microcephalic osteodysplastic dysplasia, Saul-Wilson type (ORPHA:85172)
Association type: UNKNOWN
Gene: ACTN2
Disease: CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION (OMIM:612158)
Association type: MENDELIAN
Gene: ACTN2
Disease: MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES (OMIM:618654)
Association type: MENDELIAN
Gene: ACTN2
Disease: MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT (OMIM:618655)
Association type: MENDELIAN
Gene: ACTN2
Disease: Familial isolated dilated cardiomyopathy; Familial or idiopathic dilated cardiomyopathy (ORPHA:154)
Association type: UNKNOWN
Gene: ADH1B
Disease: ALCOHOL DEPENDENCE (OMIM:103780)
Association type: POLYGENIC
Gene: ADH1C
Disease: ALCOHOL DEPENDENCE (OMIM:103780)
Association type: POLYGENIC
Gene: ADH1C
Disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Association type: POLYGENIC
Gene: GABRA2
Disease: ALCOHOL DEPENDENCE (OMIM:103780)
Association type: POLYGENIC
Gene: GABRA2
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 78 (OMIM:618557)
Association type: MENDELIAN
Gene: GABRA2
Disease: Non-specific early-onset epileptic encephalopathy; Non-specific EOEE; Undetermined EOEE; Undetermined early-onset epileptic encephalopathy (ORPHA:442835)
Association type: UNKNOWN
Gene: CREB1
Disease: HISTIOCYTOMA, ANGIOMATOID FIBROUS (OMIM:612160)
Association type: MENDELIAN
Gene: CREB1
Disease: Melanoma of soft tissue; Clear cell sarcoma of the tendons and aponeuroses (ORPHA:97338)
Association type: UNKNOWN
Gene: CREB1
Disease: Angiomatoid fibrous histiocytoma; AFH (ORPHA:569164)
Association type: UNKNOWN
Gene: SERPINA1
Disease: ALPHA-1-ANTITRYPSIN DEFICIENCY (OMIM:613490)
Association type: MENDELIAN
Gene: SERPINA1
Disease: Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation (ORPHA:178396)
Association type: UNKNOWN
Gene: SERPINA1
Disease: Alpha-1-antitrypsin deficiency; Alpha-1-proteinase inhibitor deficiency; Alpha1-antitrypsin deficiency (ORPHA:60)
Association type: UNKNOWN
Gene: SERPINA1
Disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Association type: UNKNOWN
Gene: CD19
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 3 (OMIM:613493)
Association type: MENDELIAN
Gene: CD19
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Association type: MENDELIAN
Gene: CD19
Disease:  (ORPHA:696881)
Association type: UNKNOWN
Gene: MS4A1
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 5 (OMIM:613495)
Association type: MENDELIAN
Gene: STXBP1
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 4 (OMIM:612164)
Association type: MENDELIAN
Gene: STXBP1
Disease: STXBP1-related encephalopathy (ORPHA:599373)
Association type: UNKNOWN
Gene: STXBP1
Disease: 9q33.3q34.11 microdeletion syndrome; Del(9)(q33.3q34.11); Deletion 9q33.3q34.11; Monosomy 9q33.3q34.11 (ORPHA:495818)
Association type: UNKNOWN
Gene: TNFRSF13C
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 4 (OMIM:613494)
Association type: MENDELIAN
Gene: TNFRSF13C
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Association type: MENDELIAN
Gene: TNFRSF13C
Disease:  (ORPHA:696925)
Association type: UNKNOWN
Gene: CD81
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 6 (OMIM:613496)
Association type: MENDELIAN
Gene: CD81
Disease:  (ORPHA:696881)
Association type: UNKNOWN
Gene: IL7R
Disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE (OMIM:608971)
Association type: MENDELIAN
Gene: IL7R
Disease: T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency; T-B+ SCID due to IL-7Ralpha deficiency (ORPHA:169154)
Association type: UNKNOWN
Gene: IL7R
Disease: Omenn syndrome; Combined immunodeficiency with hypereosinophilia (ORPHA:39041)
Association type: UNKNOWN
Gene: KCTD1
Disease: SCALP-EAR-NIPPLE SYNDROME (OMIM:181270)
Association type: MENDELIAN
Gene: KCTD1
Disease: Scalp-ear-nipple syndrome; Finlay-Marks syndrome (ORPHA:2036)
Association type: UNKNOWN
Gene: CAPN5
Disease: VITREORETINOPATHY, NEOVASCULAR INFLAMMATORY (OMIM:193235)
Association type: MENDELIAN
Gene: CAPN5
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: CAPN5
Disease: Autosomal dominant neovascular inflammatory vitreoretinopathy; ADNIV (ORPHA:329211)
Association type: UNKNOWN
Gene: SNCB
Disease: DEMENTIA, LEWY BODY (OMIM:127750)
Association type: MENDELIAN
Gene: EFHC1
Disease: EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 1 (OMIM:607631)
Association type: POLYGENIC
Gene: EFHC1
Disease: EPILEPSY, MYOCLONIC JUVENILE (OMIM:254770)
Association type: POLYGENIC
Gene: EFHC1
Disease: Juvenile myoclonic epilepsy; JME; Juvenile myoclonus epilepsy (ORPHA:307)
Association type: UNKNOWN
Gene: EFHC1
Disease: Juvenile absence epilepsy; JAE (ORPHA:1941)
Association type: UNKNOWN
Gene: AMER1
Disease: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS (OMIM:300373)
Association type: MENDELIAN
Gene: AMER1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: AMER1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: AMER1
Disease: Osteopathia striata-cranial sclerosis syndrome; Hyperostosis generalisata with striations; Robinow-Unger syndrome (ORPHA:2780)
Association type: UNKNOWN
Gene: CLDN1
Disease: ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS (OMIM:607626)
Association type: MENDELIAN
Gene: CLDN1
Disease: Neonatal ichthyosis-sclerosing cholangitis syndrome; IHSC; Ichthyosis-hypotrichosis-sclerosing cholangitis syndrome; NISCH syndrome (ORPHA:59303)
Association type: UNKNOWN
Gene: CD8A
Disease: CD8 DEFICIENCY, FAMILIAL (OMIM:608957)
Association type: MENDELIAN
Gene: CD8A
Disease: Susceptibility to respiratory infections associated with CD8alpha chain mutation; Familial CD8 deficiency (ORPHA:169085)
Association type: UNKNOWN
Gene: NPC2
Disease: NIEMANN-PICK DISEASE, TYPE C2 (OMIM:607625)
Association type: MENDELIAN
Gene: NPC2
Disease: Niemann-Pick disease type C, severe perinatal form (ORPHA:216972)
Association type: UNKNOWN
Gene: NPC2
Disease: Niemann-Pick disease type C, severe early infantile neurologic onset (ORPHA:216975)
Association type: UNKNOWN
Gene: NPC2
Disease: Niemann-Pick disease type C, late infantile neurologic onset (ORPHA:216978)
Association type: UNKNOWN
Gene: NPC2
Disease: Niemann-Pick disease type C, adult neurologic onset (ORPHA:216986)
Association type: UNKNOWN
Gene: NPC2
Disease: Niemann-Pick disease type C, juvenile neurologic onset; Niemann-Pick disease type C, classic form (ORPHA:216981)
Association type: UNKNOWN
Gene: RAB27A
Disease: GRISCELLI SYNDROME, TYPE 2 (OMIM:607624)
Association type: MENDELIAN
Gene: RAB27A
Disease: Griscelli syndrome type 2; Griscelli-Pruniéras syndrome type 2; Hypopigmentation-immunodeficiency with or without neurologic impairment syndrome (ORPHA:79477)
Association type: UNKNOWN
Gene: NDUFS4
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 1 (OMIM:252010)
Association type: MENDELIAN
Gene: NDUFS4
Disease: Isolated complex I deficiency; Isolated NADH-CoQ reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-ubiquinone reductase deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Association type: UNKNOWN
Gene: NQO2
Disease: BREAST CANCER (OMIM:114480)
Association type: POLYGENIC
Gene: NQO2
Disease: Hereditary breast cancer; Familial breast cancer; Familial breast carcinoma; Hereditary breast carcinoma (ORPHA:227535)
Association type: UNKNOWN
Gene: PHB1
Disease: BREAST CANCER (OMIM:114480)
Association type: POLYGENIC
Gene: HMMR
Disease: BREAST CANCER (OMIM:114480)
Association type: POLYGENIC
Gene: BARD1
Disease: BREAST CANCER (OMIM:114480)
Association type: POLYGENIC
Gene: BARD1
Disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Association type: UNKNOWN
Gene: PPM1D
Disease: BREAST CANCER (OMIM:114480)
Association type: MENDELIAN
Gene: PPM1D
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: PPM1D
Disease: JANSEN-DE VRIES SYNDROME (OMIM:617450)
Association type: MENDELIAN
Gene: PPM1D
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: PPM1D
Disease: Jansen-de Vries syndrome; Developmental delay-behavorial problems-small hands and feet-cyclic vomiting-dysmorphic features syndrome; JDVS (ORPHA:653767)
Association type: UNKNOWN
Gene: SLC67A1
Disease: BREAST CANCER (OMIM:114480)
Association type: MENDELIAN
Gene: SLC67A1
Disease: LUNG CANCER (OMIM:211980)
Association type: MENDELIAN
Gene: SLC67A1
Disease: RHABDOMYOSARCOMA, EMBRYONAL, 1 (OMIM:268210)
Association type: MENDELIAN
Gene: SLC67A1
Disease: Hereditary breast cancer; Familial breast cancer; Familial breast carcinoma; Hereditary breast carcinoma (ORPHA:227535)
Association type: UNKNOWN
Gene: SLC67A1
Disease: Embryonal rhabdomyosarcoma (ORPHA:99757)
Association type: UNKNOWN
Gene: RB1CC1
Disease: BREAST CANCER (OMIM:114480)
Association type: MENDELIAN
Gene: RAD51
Disease: BREAST CANCER (OMIM:114480)
Association type: POLYGENIC
Gene: RAD51
Disease: MIRROR MOVEMENTS 2 (OMIM:614508)
Association type: MENDELIAN
Gene: RAD51
Disease: MIRROR MOVEMENTS 1 (OMIM:157600)
Association type: MENDELIAN
Gene: RAD51
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP R (OMIM:617244)
Association type: MENDELIAN
Gene: RAD51
Disease: Fanconi anemia; Fanconi pancytopenia (ORPHA:84)
Association type: UNKNOWN
Gene: RAD51
Disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Association type: UNKNOWN
Gene: RAD51
Disease: Familial congenital mirror movements; Familial congenital controlateral synkinesia; Hereditary congenital controlateral synkinesia; Hereditary congenital mirror movements; Isolated congenital controlateral synkinesia; Isolated congenital mirror movements (ORPHA:238722)
Association type: UNKNOWN
Gene: SMPD1
Disease: NIEMANN-PICK DISEASE, TYPE B (OMIM:607616)
Association type: MENDELIAN
Gene: SMPD1
Disease: NIEMANN-PICK DISEASE, TYPE A (OMIM:257200)
Association type: MENDELIAN
Gene: SMPD1
Disease: Chronic visceral acid sphingomyelinase deficiency; Chronic visceral ASMD; NPD-B; Niemann-Pick disease type B (ORPHA:77293)
Association type: UNKNOWN
Gene: SMPD1
Disease: Infantile neurovisceral acid sphingomyelinase deficiency; Infantile neurovisceral ASMD; NPD-A; Niemann-Pick disease type A (ORPHA:77292)
Association type: UNKNOWN
Gene: ACSL4
Disease: MENTAL RETARDATION, X-LINKED 63 (OMIM:300387)
Association type: MENDELIAN
Gene: ACSL4
Disease: Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome; AMME complex; AMME syndrome; ATS-MR (ORPHA:86818)
Association type: UNKNOWN
Gene: ACSL4
Disease: X-linked non-syndromic intellectual disability (ORPHA:777)
Association type: UNKNOWN
Gene: CTC1
Disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1 (OMIM:612199)
Association type: MENDELIAN
Gene: CTC1
Disease: Coats plus syndrome; CRMCC; Cerebroretinal microangiopathy with calcifications and cysts (ORPHA:313838)
Association type: UNKNOWN
Gene: CTC1
Disease: Dyskeratosis congenita; DC; DKC; Zinsser-Engman-Cole syndrome (ORPHA:1775)
Association type: UNKNOWN
Gene: FCGR2B
Disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Association type: POLYGENIC
Gene: FCGR2B
Disease: MALARIA, SUSCEPTIBILITY TO (OMIM:611162)
Association type: POLYGENIC
Gene: FCGR2B
Disease: Systemic lupus erythematosus; Disseminated lupus erythematosus; SLE (ORPHA:536)
Association type: UNKNOWN
Gene: PTPN22
Disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Association type: POLYGENIC
Gene: PTPN22
Disease: TYPE 1 DIABETES MELLITUS (OMIM:222100)
Association type: POLYGENIC
Gene: PTPN22
Disease: RHEUMATOID ARTHRITIS (OMIM:180300)
Association type: POLYGENIC
Gene: PTPN22
Disease: Giant cell arteritis; Horton disease; Temporal arteritis (ORPHA:397)
Association type: UNKNOWN
Gene: PTPN22
Disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Association type: UNKNOWN
Gene: PTPN22
Disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis; Rheumatoid factor-negative polyarticular JIA (ORPHA:85408)
Association type: UNKNOWN
Gene: PTPN22
Disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Association type: UNKNOWN
Gene: PTPN22
Disease: Systemic lupus erythematosus; Disseminated lupus erythematosus; SLE (ORPHA:536)
Association type: UNKNOWN
Gene: PTPN22
Disease: Vogt-Koyanagi-Harada disease; Uveomenigitic syndrome (ORPHA:3437)
Association type: UNKNOWN
Gene: DNASE1
Disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Association type: POLYGENIC
Gene: DNASE1
Disease: Autosomal systemic lupus erythematosus; Autosomal SLE; Familial SLE; Familial systemic lupus erythematosus (ORPHA:300345)
Association type: UNKNOWN
Gene: DNASE1
Disease: Systemic lupus erythematosus; Disseminated lupus erythematosus; SLE (ORPHA:536)
Association type: UNKNOWN
Gene: STAC3
Disease: MYOPATHY, CONGENITAL, BAILEY-BLOCH (OMIM:255995)
Association type: MENDELIAN
Gene: STAC3
Disease: Native American myopathy; Congenital myopathy-cleft palate-malignant hyperthermia syndrome (ORPHA:168572)
Association type: UNKNOWN
Gene: ITGB2
Disease: LEUKOCYTE ADHESION DEFICIENCY, TYPE I (OMIM:116920)
Association type: MENDELIAN
Gene: ITGB2
Disease: Leukocyte adhesion deficiency type I; LAD-I (ORPHA:99842)
Association type: UNKNOWN
Gene: GALNT12
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 (OMIM:608812)
Association type: POLYGENIC
Gene: ALDOB
Disease: FRUCTOSE INTOLERANCE, HEREDITARY (OMIM:229600)
Association type: MENDELIAN
Gene: ALDOB
Disease: Hereditary fructose intolerance; Hereditary fructose-1-phosphate aldolase deficiency; Hereditary fructosemia (ORPHA:469)
Association type: UNKNOWN
Gene: HHAT
Disease: NIVELON-NIVELON-MABILLE SYNDROME (OMIM:600092)
Association type: MENDELIAN
Gene: HHAT
Disease: Chondrodysplasia-difference of sex development syndrome; Chondrodysplasia-disorder of sex development syndrome; Chondrodysplasia-pseudohermaphroditism syndrome; Nivelon-Nivelon-Mabille syndrome (ORPHA:1422)
Association type: UNKNOWN
Gene: TSPYL1
Disease: SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME (OMIM:608800)
Association type: MENDELIAN
Gene: TSPYL1
Disease: Sudden infant death-dysgenesis of the testes syndrome; SIDDT (ORPHA:168593)
Association type: UNKNOWN
Gene: CLN6
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 4A, AUTOSOMAL RECESSIVE (OMIM:204300)
Association type: MENDELIAN
Gene: CLN6
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 6 (OMIM:601780)
Association type: MENDELIAN
Gene: CLN6
Disease:  (ORPHA:700467)
Association type: UNKNOWN
Gene: CLN6
Disease:  (ORPHA:700477)
Association type: UNKNOWN
Gene: CLN6
Disease:  (ORPHA:700472)
Association type: UNKNOWN
Gene: CYP2R1
Disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B (OMIM:600081)
Association type: MENDELIAN
Gene: CYP2R1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: CYP2R1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: CYP2R1
Disease: Hypocalcemic vitamin D-dependent rickets; 1-alpha-hydroxylase deficiency; PDDRI; Pseudovitamin D-deficient rickets; VDDI; VDDR-I; Vitamin D dependent rickets type I; Vitamin D-dependency type I (ORPHA:289157)
Association type: UNKNOWN
Gene: SYCP2
Disease: SPERMATOGENIC FAILURE 1 (OMIM:258150)
Association type: MENDELIAN
Gene: RUNX1
Disease: PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY (OMIM:601399)
Association type: MENDELIAN
Gene: RUNX1
Disease: LEUKEMIA, ACUTE MYELOID (OMIM:601626)
Association type: MENDELIAN
Gene: RUNX1
Disease: Aggressive systemic mastocytosis (ORPHA:98850)
Association type: UNKNOWN
Gene: RUNX1
Disease: Acute myeloid leukemia with t(8;21)(q22;q22) translocation; AML with t(8;21)(q22;q22) translocation (ORPHA:102724)
Association type: UNKNOWN
Gene: RUNX1
Disease: Chronic myeloid leukemia; CML; Chronic granulocytic leukemia; Chronic myelogenous leukemia (ORPHA:521)
Association type: UNKNOWN
Gene: RUNX1
Disease: Familial platelet disorder with associated myeloid malignancy; FPD/AML; FPDMM; FPS/AML; Familial platelet disorder with predisposition to acute myelogenous leukemia; Familial platelet disorder with predisposition to myeloid malignancy; Familial platelet disorder with propensity to acute myeloid leukemia; Familial thrombocytopenia with propensity to acute myelogenous leukemia; RUNX1 familial platelet disorder; RUNX1 familial platelet disorder with associated myeloid malignancies; RUNX1-FPD; RUNX1-FPDMM (ORPHA:71290)
Association type: UNKNOWN
Gene: KIDINS220
Disease: VENTRICULOMEGALY AND ARTHROGRYPOSIS (OMIM:619501)
Association type: MENDELIAN
Gene: KIDINS220
Disease: SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY (OMIM:617296)
Association type: MENDELIAN
Gene: KIDINS220
Disease: Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome; SINO syndrome (ORPHA:521390)
Association type: UNKNOWN
Gene: ANKRD17
Disease: CHOPRA-AMIEL-GORDON SYNDROME (OMIM:619504)
Association type: MENDELIAN
Gene: ANKRD17
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: PRPF8
Disease: RETINITIS PIGMENTOSA 13 (OMIM:600059)
Association type: MENDELIAN
Gene: PRPF8
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: PRPF8
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: PRPF8
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: TOM1
Disease: IMMUNODEFICIENCY 85 AND AUTOIMMUNITY (OMIM:619510)
Association type: MENDELIAN
Gene: CLCN3
Disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)
Association type: MENDELIAN
Gene: CLCN3
Disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES (OMIM:619517)
Association type: MENDELIAN
Gene: CLCN3
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: KLK11
Disease: ICHTHYOSIS WITH ERYTHROKERATODERMA (OMIM:620507)
Association type: MENDELIAN
Gene: GGPS1
Disease: MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME (OMIM:619518)
Association type: MENDELIAN
Gene: GGPS1
Disease: Perrault syndrome type 2; XX gonadal dysgenesis-deafness syndrome-progressive neurological manifestations (ORPHA:642976)
Association type: UNKNOWN
Gene: GGPS1
Disease: Perrault syndrome type 1; XX gonadal dysgenesis-deafness syndrome-without neurological manifestations (ORPHA:642945)
Association type: UNKNOWN
Gene: CADM3
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF (OMIM:619519)
Association type: MENDELIAN
Gene: GABBR1
Disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND VARIABLE COGNITIVE ABNORMALITIES (OMIM:620502)
Association type: MENDELIAN
Gene: GABBR1
Disease: Autosomal dominant non-syndromic intellectual disability (ORPHA:178469)
Association type: UNKNOWN
Gene: ACR
Disease: SPERMATOGENIC FAILURE 87 (OMIM:620500)
Association type: MENDELIAN
Gene: DNAH10
Disease: SPERMATOGENIC FAILURE 56 (OMIM:619515)
Association type: MENDELIAN
Gene: DNAH10
Disease: Male infertility due to large-headed multiflagellar polyploid spermatozoa; Macrocephalic sperm head syndrome; Male infertility due to macrozoospermia (ORPHA:137893)
Association type: UNKNOWN
Gene: DNAH10
Disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Association type: UNKNOWN
Gene: SLC30A7
Disease: ZIEGLER-HUANG SYNDROME (OMIM:620501)
Association type: MENDELIAN
Gene: CKAP2L
Disease: FILIPPI SYNDROME (OMIM:272440)
Association type: MENDELIAN
Gene: CKAP2L
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: CKAP2L
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: CKAP2L
Disease: Filippi syndrome; Type 1 syndactyly-microcephaly-intellectual disability syndrome (ORPHA:3255)
Association type: UNKNOWN
Gene: MTMR2
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1 (OMIM:601382)
Association type: MENDELIAN
Gene: MTMR2
Disease: Charcot-Marie-Tooth disease type 4B1; CMT4B1 (ORPHA:99955)
Association type: UNKNOWN
Gene: ZMYM2
Disease: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES (OMIM:619522)
Association type: MENDELIAN
Gene: ZMYM2
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: HSCB
Disease: ANEMIA, SIDEROBLASTIC, 5 (OMIM:619523)
Association type: MENDELIAN
Gene: LHB
Disease: HYPOGONADOTROPIC HYPOGONADISM 23 WITHOUT ANOSMIA (OMIM:228300)
Association type: MENDELIAN
Gene: LHB
Disease: Leydig cell hypoplasia due to LHB deficiency; 46,XY DSD due to LHB deficiency; 46,XY DSD due to luteinizing hormone subunit beta deficiency; 46,XY disorder of sex development due to LHB deficiency; 46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency; Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency (ORPHA:325448)
Association type: UNKNOWN
Gene: PNLDC1
Disease: SPERMATOGENIC FAILURE 57 (OMIM:619528)
Association type: MENDELIAN
Gene: PNLDC1
Disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Association type: UNKNOWN
Gene: SNAPC4
Disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR REGRESSION, PROGRESSIVE SPASTIC PARAPLEGIA, AND OROMOTOR DYSFUNCTION (OMIM:620515)
Association type: MENDELIAN
Gene: PLCG1
Disease: IMMUNE DYSREGULATION, AUTOIMMUNITY, AND AUTOINFLAMMATION (OMIM:620514)
Association type: MENDELIAN
Gene: SLC37A4
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw (OMIM:619525)
Association type: MENDELIAN
Gene: SLC37A4
Disease: GLYCOGEN STORAGE DISEASE Ib (OMIM:232220)
Association type: MENDELIAN
Gene: SLC37A4
Disease: GLYCOGEN STORAGE DISEASE Ic (OMIM:232240)
Association type: MENDELIAN
Gene: SLC37A4
Disease: Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib; G6P deficiency type Ib; G6P translocase deficiency; G6PT deficiency; GSD due to G6P deficiency type 1b; GSD due to G6P deficiency type Ib; GSD due to G6PT deficiency; GSD type 1 non a; GSD type 1b; GSD type Ib; GSDIb; Glycogen storage disease due to G6P deficiency type Ib; Glycogen storage disease type 1b; Glycogen storage disease type Ib; Glycogenosis due to glucose-6-phosphatase deficiency type 1b; Glycogenosis due to glucose-6-phosphatase transport defect type Ib; Glycogenosis type 1b; Glycogenosis type Ib (ORPHA:79259)
Association type: UNKNOWN
Gene: SCAF4
Disease: FLIEDNER-ZWEIER SYNDROME (OMIM:620511)
Association type: MENDELIAN
Gene: SCAF4
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: ERLIN2
Disease: SPASTIC PARAPLEGIA 18A, AUTOSOMAL DOMINANT (OMIM:620512)
Association type: MENDELIAN
Gene: ERLIN2
Disease: SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE (OMIM:611225)
Association type: MENDELIAN
Gene: ERLIN2
Disease: Autosomal spastic paraplegia type 18; SPG18 (ORPHA:209951)
Association type: UNKNOWN
Gene: ERLIN2
Disease: Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome; IDMDC (ORPHA:280384)
Association type: UNKNOWN
Gene: ERLIN2
Disease: Juvenile primary lateral sclerosis; JPLS; Juvenile PLS (ORPHA:247604)
Association type: UNKNOWN
Gene: DBR1
Disease: XEROSIS AND GROWTH FAILURE WITH IMMUNE AND PULMONARY DYSFUNCTION SYNDROME (OMIM:620510)
Association type: MENDELIAN
Gene: DBR1
Disease: ENCEPHALITIS, ACUTE, INFECTION (VIRAL)-INDUCED, SUSCEPTIBILITY TO, 11 (OMIM:619441)
Association type: POLYGENIC
Gene: COCH
Disease: DEAFNESS, AUTOSOMAL DOMINANT 9 (OMIM:601369)
Association type: MENDELIAN
Gene: COCH
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 110 (OMIM:618094)
Association type: MENDELIAN