TaoMedAI/RareMedData huggingface dataset:
Gene: KITLG
Disease: Familial progressive hyperpigmentation; Melanosis diffusa congenita; Melanosis universalis hereditaria; Universal melanosis (ORPHA:79146)
Association type: UNKNOWN
Gene: RNASEH2A
Disease: AICARDI-GOUTIERES SYNDROME 4 (OMIM:610333)
Association type: MENDELIAN
Gene: RNASEH2A
Disease: Aicardi-Goutières syndrome; Encephalopathy with basal ganglia calcification; Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid (ORPHA:51)
Association type: UNKNOWN
Gene: CATSPER1
Disease: SPERMATOGENIC FAILURE 7 (OMIM:612997)
Association type: MENDELIAN
Gene: CATSPER1
Disease: Non-syndromic male infertility due to sperm motility disorder; Non-syndromic male infertility due asthenozoospermia (ORPHA:276234)
Association type: UNKNOWN
Gene: STRC
Disease: SPERMATOGENIC FAILURE 7 (OMIM:612997)
Association type: MENDELIAN
Gene: STRC
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 16 (OMIM:603720)
Association type: MENDELIAN
Gene: STRC
Disease: DEAFNESS-INFERTILITY SYNDROME (OMIM:611102)
Association type: MENDELIAN
Gene: STRC
Disease: Rare autosomal recessive non-syndromic sensorineural deafness type DFNB; Autosomal recessive isolated neurosensory deafness type DFNB; Autosomal recessive isolated neurosensory hearing loss type DFNB; Autosomal recessive isolated sensorineural deafness type DFNB; Autosomal recessive isolated sensorineural hearing loss type DFNB; Autosomal recessive non-syndromic neurosensory deafness type DFNB; Autosomal recessive non-syndromic neurosensory hearing loss type DFNB; Autosomal recessive non-syndromic sensorineural hearing loss type DFNB (ORPHA:90636)
Association type: UNKNOWN
Gene: STRC
Disease: Deafness-infertility syndrome; DIS; Hearing loss-infertility syndrome (ORPHA:94064)
Association type: UNKNOWN
Gene: CATSPER2
Disease: SPERMATOGENIC FAILURE 7 (OMIM:612997)
Association type: MENDELIAN
Gene: CATSPER2
Disease: DEAFNESS-INFERTILITY SYNDROME (OMIM:611102)
Association type: MENDELIAN
Gene: CATSPER2
Disease: Deafness-infertility syndrome; DIS; Hearing loss-infertility syndrome (ORPHA:94064)
Association type: UNKNOWN
Gene: FGF16
Disease: METACARPAL 4-5 FUSION (OMIM:309630)
Association type: MENDELIAN
Gene: FGF16
Disease: Syndactyly type 8; Fusion of metacarpals 4 and 5 (ORPHA:2498)
Association type: UNKNOWN
Gene: SYNE2
Disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT (OMIM:612999)
Association type: MENDELIAN
Gene: SYNE2
Disease: Autosomal dominant Emery-Dreifuss muscular dystrophy; EDMD2 (ORPHA:98853)
Association type: UNKNOWN
Gene: IKBKG
Disease: INCONTINENTIA PIGMENTI (OMIM:308300)
Association type: MENDELIAN
Gene: IKBKG
Disease: AUTOINFLAMMATORY DISEASE, SYSTEMIC, X-LINKED (OMIM:301081)
Association type: MENDELIAN
Gene: IKBKG
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: IKBKG
Disease: ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1 (OMIM:300291)
Association type: MENDELIAN
Gene: IKBKG
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: IKBKG
Disease: IMMUNODEFICIENCY 33 (OMIM:300636)
Association type: MENDELIAN
Gene: IKBKG
Disease:  (ORPHA:699605)
Association type: UNKNOWN
Gene: IKBKG
Disease: Hypohidrotic ectodermal dysplasia with immunodeficiency; Anhidrotic ectodermal dysplasia with immunodeficiency; EDA-ID; HED-ID (ORPHA:98813)
Association type: UNKNOWN
Gene: IKBKG
Disease: Incontinentia pigmenti; Bloch-Siemens syndrome; Bloch-Sulzberger syndrome (ORPHA:464)
Association type: UNKNOWN
Gene: IKBKG
Disease: Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome; OL-EDA-ID (ORPHA:69088)
Association type: UNKNOWN
Gene: MAFB
Disease: MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME (OMIM:166300)
Association type: MENDELIAN
Gene: MAFB
Disease: DUANE RETRACTION SYNDROME 3 WITH OR WITHOUT DEAFNESS (OMIM:617041)
Association type: MENDELIAN
Gene: MAFB
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: MAFB
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: MAFB
Disease: Duane retraction syndrome with congenital deafness; DRS with deafness; DRS with hearing loss; DURS with deafness; DURS with hearing loss; Duane retraction syndrome with congenital hearing loss (ORPHA:529574)
Association type: UNKNOWN
Gene: MAFB
Disease: Multicentric carpo-tarsal osteolysis with or without nephropathy; Idiopathic multicentric osteolysis with or without nephropathy (ORPHA:2774)
Association type: UNKNOWN
Gene: MAFB
Disease: Duane retraction syndrome; DRS; DURS; Duane syndrome; Stilling-Turk-Duane syndrome (ORPHA:233)
Association type: UNKNOWN
Gene: SYNE1
Disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT (OMIM:612998)
Association type: MENDELIAN
Gene: SYNE1
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (OMIM:610743)
Association type: MENDELIAN
Gene: SYNE1
Disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 3, MYOGENIC TYPE (OMIM:618484)
Association type: MENDELIAN
Gene: SYNE1
Disease: Autosomal recessive ataxia, Beauce type; ARCA1; Autosomal recessive cerebellar ataxia type 1; SCAR8 (ORPHA:88644)
Association type: UNKNOWN
Gene: SYNE1
Disease: Autosomal dominant Emery-Dreifuss muscular dystrophy; EDMD2 (ORPHA:98853)
Association type: UNKNOWN
Gene: SYNE1
Disease: Autosomal recessive myogenic arthrogryposis multiplex congenita; Autosomal recessive myogenic AMC; SYNE1-related AMC; SYNE1-related arthrogryposis multiplex congenita (ORPHA:319332)
Association type: UNKNOWN
Gene: SF3B4
Disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)
Association type: MENDELIAN
Gene: SF3B4
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: SF3B4
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: SF3B4
Disease: Nager syndrome; Mandibulofacial dysostosis with preaxial limb anomalies; NAFD; Nager acrofacial dysostosis; Preaxial acrodysostosis (ORPHA:245)
Association type: UNKNOWN
Gene: SF3B4
Disease: Acrofacial dysostosis, Rodríguez type (ORPHA:1788)
Association type: UNKNOWN
Gene: DDHD1
Disease: SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE (OMIM:609340)
Association type: MENDELIAN
Gene: DDHD1
Disease: Autosomal recessive spastic paraplegia type 28; SPG28 (ORPHA:101008)
Association type: UNKNOWN
Gene: PJVK
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 59 (OMIM:610220)
Association type: MENDELIAN
Gene: PJVK
Disease: Rare autosomal recessive non-syndromic sensorineural deafness type DFNB; Autosomal recessive isolated neurosensory deafness type DFNB; Autosomal recessive isolated neurosensory hearing loss type DFNB; Autosomal recessive isolated sensorineural deafness type DFNB; Autosomal recessive isolated sensorineural hearing loss type DFNB; Autosomal recessive non-syndromic neurosensory deafness type DFNB; Autosomal recessive non-syndromic neurosensory hearing loss type DFNB; Autosomal recessive non-syndromic sensorineural hearing loss type DFNB (ORPHA:90636)
Association type: UNKNOWN
Gene: MCM8
Disease: PREMATURE OVARIAN FAILURE 10 (OMIM:612885)
Association type: MENDELIAN
Gene: RAF1
Disease: LEOPARD SYNDROME 2 (OMIM:611554)
Association type: MENDELIAN
Gene: RAF1
Disease: NOONAN SYNDROME 5 (OMIM:611553)
Association type: MENDELIAN
Gene: RAF1
Disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Association type: MENDELIAN
Gene: RAF1
Disease: CARDIOMYOPATHY, DILATED, 1NN (OMIM:615916)
Association type: MENDELIAN
Gene: RAF1
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: RAF1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: RAF1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: RAF1
Disease: Familial isolated dilated cardiomyopathy; Familial or idiopathic dilated cardiomyopathy (ORPHA:154)
Association type: UNKNOWN
Gene: RAF1
Disease: Large/giant congenital melanocytic nevus; LGCMN; Large/giant CMN syndrome; Large/giant congenital pigmented nevus (ORPHA:626)
Association type: UNKNOWN
Gene: RAF1
Disease: Noonan syndrome (ORPHA:648)
Association type: UNKNOWN
Gene: RAF1
Disease: Noonan syndrome with multiple lentigines; Cardiomyopathic lentiginosis; Familial multiple lentigines syndrome; LEOPARD syndrome (ORPHA:500)
Association type: UNKNOWN
Gene: RAF1
Disease: Pilomyxoid astrocytoma (ORPHA:251615)
Association type: UNKNOWN
Gene: GYS1
Disease: GLYCOGEN STORAGE DISEASE 0, MUSCLE (OMIM:611556)
Association type: MENDELIAN
Gene: GYS1
Disease: Glycogen storage disease due to muscle and heart glycogen synthase deficiency; GSD due to muscle and heart glycogen synthase deficiency; GSD type 0b; Glycogen storage disease type 0b; Glycogenosis due to muscle and heart glycogen synthase deficiency; Glycogenosis type 0b (ORPHA:137625)
Association type: UNKNOWN
Gene: ZNF750
Disease: SEBORRHEA-LIKE DERMATITIS WITH PSORIASIFORM ELEMENTS (OMIM:610227)
Association type: MENDELIAN
Gene: ZNF750
Disease: Seborrhea-like dermatitis with psoriasiform elements (ORPHA:168606)
Association type: UNKNOWN
Gene: HSD11B2
Disease: APPARENT MINERALOCORTICOID EXCESS (OMIM:218030)
Association type: MENDELIAN
Gene: HSD11B2
Disease: Apparent mineralocorticoid excess; 11-beta-hydroxysteroid dehydrogenase deficiency type 2; Ulick syndrome (ORPHA:320)
Association type: UNKNOWN
Gene: GBA1
Disease: GAUCHER DISEASE, PERINATAL LETHAL (OMIM:608013)
Association type: MENDELIAN
Gene: GBA1
Disease: GAUCHER DISEASE, TYPE IIIC (OMIM:231005)
Association type: MENDELIAN
Gene: GBA1
Disease: GAUCHER DISEASE, TYPE III (OMIM:231000)
Association type: MENDELIAN
Gene: GBA1
Disease: DEMENTIA, LEWY BODY (OMIM:127750)
Association type: POLYGENIC
Gene: GBA1
Disease: GAUCHER DISEASE, TYPE II (OMIM:230900)
Association type: MENDELIAN
Gene: GBA1
Disease: GAUCHER DISEASE, TYPE I (OMIM:230800)
Association type: MENDELIAN
Gene: GBA1
Disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Association type: POLYGENIC
Gene: GBA1
Disease: Fetal Gaucher disease; Perinatal lethal Gaucher disease (ORPHA:85212)
Association type: UNKNOWN
Gene: GBA1
Disease: Gaucher disease type 3; Cerebral juvenile and adult form of Gaucher disease; Chronic neuronopathic Gaucher disease; Gaucher disease, subacute neuronopathic type (ORPHA:77261)
Association type: UNKNOWN
Gene: GBA1
Disease: Gaucher disease type 2; Acute neuronopathic Gaucher disease; Infantile cerebral Gaucher disease (ORPHA:77260)
Association type: UNKNOWN
Gene: GBA1
Disease: Gaucher disease type 1; Non-cerebral juvenile Gaucher disease (ORPHA:77259)
Association type: UNKNOWN
Gene: GBA1
Disease: Hereditary late-onset Parkinson disease; Autosomal dominant late-onset Parkinson disease; LOPD (ORPHA:411602)
Association type: UNKNOWN
Gene: GBA1
Disease: Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Cardiovascular Gaucher disease; Gaucher disease type 3C; Gaucher-like disease (ORPHA:2072)
Association type: UNKNOWN
Gene: LAMA3
Disease: LARYNGOONYCHOCUTANEOUS SYNDROME (OMIM:245660)
Association type: MENDELIAN
Gene: LAMA3
Disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE (OMIM:226700)
Association type: MENDELIAN
Gene: LAMA3
Disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2B, SEVERE (OMIM:619784)
Association type: MENDELIAN
Gene: LAMA3
Disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 2A, INTERMEDIATE (OMIM:619783)
Association type: MENDELIAN
Gene: LAMA3
Disease: Severe generalized junctional epidermolysis bullosa; Epidermolysis bullosa letalis; JEB-H; Junctional epidermolysis bullosa generalisata gravis; Junctional epidermolysis bullosa, Herlitz type; Junctional epidermolysis bullosa, Herlitz-Pearson type; Severe generalized JEB (ORPHA:79404)
Association type: UNKNOWN
Gene: LAMA3
Disease: Intermediate generalized junctional epidermolysis bullosa; Generalized atrophic benign epidermolysis bullosa; Generalized junctional epidermolysis bullosa, non-Herlitz type; Intermediate generalized JEB; Junctional epidermolysis bullosa generalisata mitis; Junctional epidermolysis bullosa, Disentis type (ORPHA:79402)
Association type: UNKNOWN
Gene: LAMA3
Disease: Laryngo-onycho-cutaneous syndrome; LOC syndrome; LOGIC syndrome; Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome; Shabbir syndrome (ORPHA:2407)
Association type: UNKNOWN
Gene: RPGRIP1L
Disease: MECKEL SYNDROME, TYPE 5 (OMIM:611561)
Association type: MENDELIAN
Gene: RPGRIP1L
Disease: JOUBERT SYNDROME 7 (OMIM:611560)
Association type: MENDELIAN
Gene: RPGRIP1L
Disease: COACH SYNDROME 3 (OMIM:619113)
Association type: MENDELIAN
Gene: RPGRIP1L
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: RPGRIP1L
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: RPGRIP1L
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: RPGRIP1L
Disease: Joubert syndrome with renal defect; JS-R (ORPHA:220497)
Association type: UNKNOWN
Gene: RPGRIP1L
Disease: Joubert syndrome with hepatic defect; COACH syndrome; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; JS-H; Joubert syndrome with congenital hepatic fibrosis (ORPHA:1454)
Association type: UNKNOWN
Gene: RPGRIP1L
Disease: Meckel syndrome; Dysencephalia splanchnocystica; Meckel-Gruber syndrome (ORPHA:564)
Association type: UNKNOWN
Gene: CASR
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 8 (OMIM:612899)
Association type: POLYGENIC
Gene: CASR
Disease: HYPERPARATHYROIDISM, NEONATAL SEVERE (OMIM:239200)
Association type: MENDELIAN
Gene: CASR
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: CASR
Disease: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 (OMIM:601198)
Association type: MENDELIAN
Gene: CASR
Disease: HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE I (OMIM:145980)
Association type: MENDELIAN
Gene: CASR
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: CASR
Disease: Hereditary chronic pancreatitis (ORPHA:676)
Association type: UNKNOWN
Gene: CASR
Disease: Familial hypocalciuric hypercalcemia type 1; FHH type 1 (ORPHA:93372)
Association type: UNKNOWN
Gene: CASR
Disease: Autosomal dominant hypocalcemia; AD hypocalcemia (ORPHA:428)
Association type: UNKNOWN
Gene: CASR
Disease: Neonatal severe primary hyperparathyroidism; NSHPT (ORPHA:417)
Association type: UNKNOWN
Gene: NPHS1
Disease: NEPHROTIC SYNDROME, TYPE 1 (OMIM:256300)
Association type: MENDELIAN
Gene: NPHS1
Disease: Congenital nephrotic syndrome, Finnish type; Finnish congenital nephrosis (ORPHA:839)
Association type: UNKNOWN
Gene: NPHS1
Disease: Hereditary steroid-resistant nephrotic syndrome; Familial idiopathic steroid-resistant nephrotic syndrome; Genetic FSGS; Genetic SRNS; Hereditary SRNS; Isolated SRNS; Monogenic SRNS (ORPHA:656)
Association type: UNKNOWN
Gene: NPHS2
Disease: NEPHROTIC SYNDROME, TYPE 2 (OMIM:600995)
Association type: MENDELIAN
Gene: NPHS2
Disease: Hereditary steroid-resistant nephrotic syndrome; Familial idiopathic steroid-resistant nephrotic syndrome; Genetic FSGS; Genetic SRNS; Hereditary SRNS; Isolated SRNS; Monogenic SRNS (ORPHA:656)
Association type: UNKNOWN
Gene: GSDME
Disease: DEAFNESS, AUTOSOMAL DOMINANT 5 (OMIM:600994)
Association type: MENDELIAN
Gene: GSDME
Disease: Rare autosomal dominant non-syndromic sensorineural deafness type DFNA; Autosomal dominant isolated neurosensory deafness type DFNA; Autosomal dominant isolated neurosensory hearing loss type DFNA; Autosomal dominant isolated sensorineural deafness type DFNA; Autosomal dominant isolated sensorineural hearing loss type DFNA; Autosomal dominant non-syndromic neurosensory deafness type DFNA; Autosomal dominant non-syndromic neurosensory hearing loss type DFNA; Autosomal dominant non-syndromic sensorineural hearing loss type DFNA (ORPHA:90635)
Association type: UNKNOWN
Gene: CRYGS
Disease: CATARACT 20, MULTIPLE TYPES (OMIM:116100)
Association type: MENDELIAN
Gene: CRYGS
Disease: Early-onset sutural cataract; Early-onset cataract with Y-shaped suture opacities (ORPHA:98985)
Association type: UNKNOWN
Gene: CRYGS
Disease: Early-onset lamellar cataract (ORPHA:441452)
Association type: UNKNOWN
Gene: CDKN2A
Disease: MELANOMA-ASTROCYTOMA SYNDROME (OMIM:155755)
Association type: POLYGENIC
Gene: CDKN2A
Disease: MELANOMA-PANCREATIC CANCER SYNDROME (OMIM:606719)
Association type: POLYGENIC
Gene: CDKN2A
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 (OMIM:155601)
Association type: POLYGENIC
Gene: CDKN2A
Disease: Precursor T-cell acute lymphoblastic leukemia; Precursor T-cell acute lymphoblastic leukemia/lymphoma; Precursor T-cell acute lymphocytic leukemia; Precursor T-cell acute lymphocytic leukemia/lymphoma; T-ALL (ORPHA:99861)
Association type: UNKNOWN
Gene: CDKN2A
Disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Association type: UNKNOWN
Gene: CDKN2A
Disease: B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2); B-ALL with t(9;22)(q34.1;q11.2); BCR-ABL1-like B-ALL; Philadelphia chromosome-like B-ALL (ORPHA:585909)
Association type: UNKNOWN
Gene: CDKN2A
Disease: Familial pancreatic carcinoma; Familial pancreatic cancer (ORPHA:1333)
Association type: UNKNOWN
Gene: CDKN2A
Disease: Familial atypical multiple mole melanoma syndrome; B-K mole syndrome; FAMM-PC syndrome; FAMMM syndrome; Familial atypical mole syndrome; Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome; Familial dysplastic nevus syndrome; Melanoma-pancreatic cancer syndrome (ORPHA:404560)
Association type: UNKNOWN
Gene: CDKN2A
Disease: Familial melanoma (ORPHA:618)
Association type: UNKNOWN
Gene: CDKN2A
Disease: Melanoma and neural system tumor syndrome; Melanoma-astrocytoma syndrome (ORPHA:252206)
Association type: UNKNOWN
Gene: CDKN2A
Disease: Li-Fraumeni syndrome (ORPHA:524)
Association type: UNKNOWN
Gene: PDYN
Disease: SPINOCEREBELLAR ATAXIA 23 (OMIM:610245)
Association type: MENDELIAN
Gene: PDYN
Disease: Spinocerebellar ataxia type 23; SCA23 (ORPHA:101108)
Association type: UNKNOWN
Gene: AFG3L2
Disease: SPINOCEREBELLAR ATAXIA 28 (OMIM:610246)
Association type: MENDELIAN
Gene: AFG3L2
Disease: OPTIC ATROPHY 12 (OMIM:618977)
Association type: MENDELIAN
Gene: AFG3L2
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: AFG3L2
Disease: SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE (OMIM:614487)
Association type: MENDELIAN
Gene: AFG3L2
Disease: Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome; AFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome; Autosomal recessive spastic ataxia type 5; SPAX5 (ORPHA:313772)
Association type: UNKNOWN
Gene: AFG3L2
Disease: Spinocerebellar ataxia type 28; SCA28 (ORPHA:101109)
Association type: UNKNOWN
Gene: ALMS1
Disease: ALSTROM SYNDROME (OMIM:203800)
Association type: MENDELIAN
Gene: ALMS1
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: ALMS1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: ALMS1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: ALMS1
Disease: Alström syndrome (ORPHA:64)
Association type: UNKNOWN
Gene: RAG1
Disease: COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS (OMIM:233650)
Association type: MENDELIAN
Gene: RAG1
Disease: ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION, SEVERE CYTOMEGALOVIRUS INFECTION, AND AUTOIMMUNITY (OMIM:609889)
Association type: MENDELIAN
Gene: RAG1
Disease: OMENN SYNDROME (OMIM:603554)
Association type: MENDELIAN
Gene: RAG1
Disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE (OMIM:601457)
Association type: MENDELIAN
Gene: RAG1
Disease: Combined immunodeficiency with granulomatosis; CID due to RAG 1/2 deficiency; Combined immunodeficiency due to RAG 1/2 deficiency (ORPHA:157949)
Association type: UNKNOWN
Gene: RAG1
Disease: Omenn syndrome; Combined immunodeficiency with hypereosinophilia (ORPHA:39041)
Association type: UNKNOWN
Gene: RAG1
Disease: Severe combined immunodeficiency due to complete RAG1/2 deficiency; SCID due to complete RAG1/2 deficiency (ORPHA:331206)
Association type: UNKNOWN
Gene: RAG1
Disease: Combined immunodeficiency due to partial RAG1 deficiency; CID due to partial RAG1 deficiency; CID with expansion of gamma delta T cells; Combined immunodeficiency with expansion of gamma delta T cells (ORPHA:231154)
Association type: UNKNOWN
Gene: RAG2
Disease: COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS (OMIM:233650)
Association type: MENDELIAN
Gene: RAG2
Disease: OMENN SYNDROME (OMIM:603554)
Association type: MENDELIAN
Gene: RAG2
Disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE (OMIM:601457)
Association type: MENDELIAN
Gene: RAG2
Disease: Combined immunodeficiency with granulomatosis; CID due to RAG 1/2 deficiency; Combined immunodeficiency due to RAG 1/2 deficiency (ORPHA:157949)
Association type: UNKNOWN
Gene: RAG2
Disease: Omenn syndrome; Combined immunodeficiency with hypereosinophilia (ORPHA:39041)
Association type: UNKNOWN
Gene: RAG2
Disease: Severe combined immunodeficiency due to complete RAG1/2 deficiency; SCID due to complete RAG1/2 deficiency (ORPHA:331206)
Association type: UNKNOWN
Gene: SMARCB1
Disease: RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (OMIM:609322)
Association type: MENDELIAN
Gene: SMARCB1
Disease: SCHWANNOMATOSIS 1 (OMIM:162091)
Association type: POLYGENIC
Gene: SMARCB1
Disease: COFFIN-SIRIS SYNDROME 3 (OMIM:614608)
Association type: MENDELIAN
Gene: SMARCB1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: SMARCB1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: SMARCB1
Disease: Rhabdoid tumor predisposition syndrome; RTPS (ORPHA:231108)
Association type: UNKNOWN
Gene: SMARCB1
Disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Association type: UNKNOWN
Gene: SMARCB1
Disease: Atypical teratoid rhabdoid tumor; ATRT (ORPHA:99966)
Association type: UNKNOWN
Gene: SMARCB1
Disease: Full schwannomatosis; Full NF3; Full SWN; Full neurofibromatosis type 3; Neurilemmomatosis; Nonmosaic schwannomatosis (ORPHA:93921)
Association type: UNKNOWN
Gene: SMARCB1
Disease: Meningioma (ORPHA:2495)
Association type: UNKNOWN
Gene: SMARCB1
Disease: Familial multiple meningioma (ORPHA:263662)
Association type: UNKNOWN
Gene: MEIS2
Disease: CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION (OMIM:600987)
Association type: MENDELIAN
Gene: MEIS2
Disease: Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion; 15q14 microdeletion syndrome; Del(15)(q14); Monosomy 15q14 (ORPHA:261190)
Association type: UNKNOWN
Gene: REEP1
Disease: SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT (OMIM:610250)
Association type: MENDELIAN
Gene: REEP1
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 6 (OMIM:620011)
Association type: MENDELIAN
Gene: REEP1
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VB (OMIM:614751)
Association type: MENDELIAN
Gene: REEP1
Disease: Autosomal dominant spastic paraplegia type 31; SPG31 (ORPHA:101011)
Association type: UNKNOWN
Gene: REEP1
Disease: Distal hereditary motor neuropathy type 5; Distal HMN V; Distal hereditary motor neuropathy type V; Distal spinal muscular atrophy type 5; dHMN5 (ORPHA:139536)
Association type: UNKNOWN
Gene: ALDH2
Disease: ALCOHOL SENSITIVITY, ACUTE (OMIM:610251)
Association type: MENDELIAN
Gene: EHMT1
Disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Association type: MENDELIAN
Gene: EHMT1
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: EHMT1
Disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Association type: UNKNOWN
Gene: EHMT1
Disease: Kleefstra syndrome due to 9q34 microdeletion; 9q subtelomeric deletion syndrome; 9qSTDS; Kleefstra syndrome due to 9q subtelomeric deletion; Kleefstra syndrome due to del(9)(q34); Kleefstra syndrome due to monosomy 9q34 (ORPHA:96147)
Association type: UNKNOWN
Gene: SOX10
Disease: WAARDENBURG SYNDROME, TYPE 2E (OMIM:611584)
Association type: MENDELIAN
Gene: SOX10
Disease: PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE (OMIM:609136)
Association type: MENDELIAN
Gene: SOX10
Disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Association type: MENDELIAN
Gene: SOX10
Disease: WAARDENBURG SYNDROME, TYPE 4C (OMIM:613266)
Association type: MENDELIAN